Canonical Allele Identifier: CA022792

Gene: APOB

Linked Data

• ClinVar Variation Id: 128419
• ClinVar RCV Id: RCV000116383 ; RCV000203110 ; RCV000771061 ; RCV001094658 ; RCV001837454 ; RCV002381423 ; RCV003477497
• dbSNP Id: rs1801695
• ExAC: 2:21224853 C / T
• gnomAD v2: 2-21224853-C-T
• gnomAD v3: 2-21001981-C-T
• gnomAD v4: 2-21001981-C-T
• MyVariant Identifiers: chr2:g.21224853C>T (hg19) ; chr2:g.21001981C>T (hg38)
• PubMed: PMID:8960785 ; PMID:21408211

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001981C>T , CM000664.2:g.21001981C>T	GRCh38
NC_000002.11:g.21224853C>T , CM000664.1:g.21224853C>T	GRCh37
NC_000002.10:g.21078358C>T	NCBI36
NG_011793.1:g.47093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13441G>A MANE Select	ENSP00000233242.1:p.Ala4481Thr
ENST00000616098.4:c.13439G>A	ENSP00000477990.1:n.13439G>A
NM_000384.2:c.13441G>A	NP_000375.2:p.Ala4481Thr
XM_011532809.1:c.5870-2708G>A	XP_011531111.1:n.5870-2708G>A
NM_000384.3:c.13441G>A MANE Select	NP_000375.3:p.Ala4481Thr